Endocrine Abstracts

Introduction: Causes of Primary Congenital Hypogonadism in Males are Leydig cell Agenesis, Cryptorchidism, Chromosome abnormalities (e.g. Klinefelter syndrome, SRY positive 46 XX etc), Enzyme defects include 5α-reductase deficiency. Acquired Primary Hypogonadism includes Testicular torsion, Orchidectomy, Chemotherapy/Radiation toxicity, Orchitis, CKD, Cirrhosis, Sickle cell disease, etc. SRY (SEX determining region Y) is regulatory gene located on Y chromosome and is responsible for bipotential gonad to differentiate into a testis. 46 XX male is rare (1 in 20 000 new-born males) and SRY positivity is responsible for 90% of these subjects. External genitalia of 46, XX SRY-positive males appears normal at birth, and diagnosed later with delayed puberty, small external genitalia and infertility [1].

Case report: 62 year old gentleman referred for ‘Mood swings’ and low testosterone. Facial hair growth, Erections and libido normal. He claimed to have a biological daughter of 25 years age. No history of trauma or infection to genitalia. Examination showed Male external genitalia of Tanner Stage 2. Hormone profile showed undetectable Testosterone <0.07, Raised FSH of 45 and LH of 19.6, 0900 h Cortisol 324, prolactin 228, TFTs normal. Vitamin D low at 22.7. DEXA scan showed L/S T score of −2.6 and left hip of −1.3. Ultrasound of scrotum showed bilateral small testes, with high riding Right testis. Karyotyping showed 46 XX male with SRY mutation positive. Vitamin D replacement given .Started on Testogel, but symptoms didn’t resolve, so changed to Nebido. Patient was counselled about Infertility. Referred to Geneticist.

Conclusions and discussions: Literature review shows cases of 46 XX Males associated with Scleroderma [2], Breast cancer [3], Achondroplasia [4] and Speech disorders [5]. Most of cases are diagnosed between the 2nd decade and 4th decade due to Infertility. However, our case is a late presentation with Mood swings, Osteoporosis and Infertility.